rs63751657, MLH1

N. diseases: 4
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. 8808596 1996